UniProtKB - Q12951 (FOXI1_HUMAN)
Protein
Forkhead box protein I1
Gene
FOXI1
Organism
Homo sapiens (Human)
Status
Functioni
Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 123 – 217 | Fork-headPROSITE-ProRule annotationAdd BLAST | 95 |
GO - Molecular functioni
- DNA binding, bending Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- anatomical structure morphogenesis Source: GO_Central
- cell differentiation Source: GO_Central
- embryo development ending in birth or egg hatching Source: UniProtKB
- inner ear morphogenesis Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q12951 |
SignaLinki | Q12951 |
SIGNORi | Q12951 |
Names & Taxonomyi
Protein namesi | Recommended name: Forkhead box protein I1Alternative name(s): Forkhead-related protein FKHL10 Forkhead-related transcription factor 6 Short name: FREAC-6 Hepatocyte nuclear factor 3 forkhead homolog 3 Short name: HFH-3 Short name: HNF-3/fork-head homolog 3 |
Gene namesi | Name:FOXI1 Synonyms:FKHL10, FREAC6 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000168269.8 |
HGNCi | HGNC:3815, FOXI1 |
MIMi | 601093, gene |
neXtProti | NX_Q12951 |
Subcellular locationi
Nucleus
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleolus Source: HPA
- nucleus Source: GO_Central
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 2299 |
GeneReviewsi | FOXI1 |
MalaCardsi | FOXI1 |
OpenTargetsi | ENSG00000168269 |
Orphaneti | 402041, Autosomal recessive distal renal tubular acidosis 705, Pendred syndrome |
PharmGKBi | PA28232 |
Miscellaneous databases
Pharosi | Q12951, Tbio |
Polymorphism and mutation databases
BioMutai | FOXI1 |
DMDMi | 150421552 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000091846 | 1 – 378 | Forkhead box protein I1Add BLAST | 378 |
Proteomic databases
MassIVEi | Q12951 |
PaxDbi | Q12951 |
PeptideAtlasi | Q12951 |
PRIDEi | Q12951 |
ProteomicsDBi | 59045 [Q12951-1] 59046 [Q12951-2] |
PTM databases
iPTMneti | Q12951 |
PhosphoSitePlusi | Q12951 |
Expressioni
Tissue specificityi
Expressed in kidney.
Gene expression databases
Bgeei | ENSG00000168269, Expressed in adult mammalian kidney and 44 other tissues |
ExpressionAtlasi | Q12951, baseline and differential |
Genevisiblei | Q12951, HS |
Organism-specific databases
HPAi | ENSG00000168269, Tissue enhanced (kidney, salivary gland) |
Interactioni
Binary interactionsi
Hide detailsIsoform 2 [Q12951-2]
Protein-protein interaction databases
BioGRIDi | 108588, 37 interactors |
IntActi | Q12951, 36 interactors |
MINTi | Q12951 |
STRINGi | 9606.ENSP00000304286 |
Miscellaneous databases
RNActi | Q12951, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 7 – 97 | Pro-richAdd BLAST | 91 |
Phylogenomic databases
eggNOGi | KOG2294, Eukaryota |
GeneTreei | ENSGT00940000161316 |
HOGENOMi | CLU_046860_1_0_1 |
InParanoidi | Q12951 |
OMAi | MKVPRDD |
PhylomeDBi | Q12951 |
TreeFami | TF316127 |
Family and domain databases
CDDi | cd00059, FH, 1 hit |
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR001766, Fork_head_dom IPR033065, Foxi1 IPR018122, TF_fork_head_CS_1 IPR030456, TF_fork_head_CS_2 IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR11829:SF180, PTHR11829:SF180, 1 hit |
Pfami | View protein in Pfam PF00250, Forkhead, 1 hit |
PRINTSi | PR00053, FORKHEAD |
SMARTi | View protein in SMART SM00339, FH, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS00657, FORK_HEAD_1, 1 hit PS00658, FORK_HEAD_2, 1 hit PS50039, FORK_HEAD_3, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q12951-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSSFDLPAPS PPRCSPQFPS IGQEPPEMNL YYENFFHPQG VPSPQRPSFE
60 70 80 90 100
GGGEYGATPN PYLWFNGPTM TPPPYLPGPN ASPFLPQAYG VQRPLLPSVS
110 120 130 140 150
GLGGSDLGWL PIPSQEELMK LVRPPYSYSA LIAMAIHGAP DKRLTLSQIY
160 170 180 190 200
QYVADNFPFY NKSKAGWQNS IRHNLSLNDC FKKVPRDEDD PGKGNYWTLD
210 220 230 240 250
PNCEKMFDNG NFRRKRKRKS DVSSSTASLA LEKTESSLPV DSPKTTEPQD
260 270 280 290 300
ILDGASPGGT TSSPEKRPSP PPSGAPCLNS FLSSMTAYVS GGSPTSHPLV
310 320 330 340 350
TPGLSPEPSD KTGQNSLTFN SFSPLTNLSN HSGGGDWANP MPTNMLSYGG
360 370
SVLSQFSPHF YNSVNTSGVL YPREGTEV
Sequence cautioni
The sequence AAB50574 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAU12169 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 2 – 4 | SSF → NSG in AAB50574 (PubMed:9153225).Curated | 3 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049160 | 243 | P → S. Corresponds to variant dbSNP:rs35678180Ensembl. | 1 | |
Natural variantiVAR_049161 | 362 | N → S. Corresponds to variant dbSNP:rs3828625Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001543 | 192 – 286 | Missing in isoform 2. 2 PublicationsAdd BLAST | 95 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BC029778 mRNA Translation: AAH29778.2 L13203 mRNA Translation: AAB50574.1 Different initiation. AY707089 mRNA Translation: AAU12169.1 Different initiation. U13224 Genomic DNA Translation: AAA92041.1 |
CCDSi | CCDS4372.1 [Q12951-1] CCDS47337.1 [Q12951-2] |
PIRi | A47450 S51629 |
RefSeqi | NP_036320.2, NM_012188.4 [Q12951-1] NP_658982.1, NM_144769.2 [Q12951-2] |
Genome annotation databases
Ensembli | ENST00000306268; ENSP00000304286; ENSG00000168269 [Q12951-1] ENST00000449804; ENSP00000415483; ENSG00000168269 [Q12951-2] |
GeneIDi | 2299 |
KEGGi | hsa:2299 |
UCSCi | uc003mai.5, human [Q12951-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BC029778 mRNA Translation: AAH29778.2 L13203 mRNA Translation: AAB50574.1 Different initiation. AY707089 mRNA Translation: AAU12169.1 Different initiation. U13224 Genomic DNA Translation: AAA92041.1 |
CCDSi | CCDS4372.1 [Q12951-1] CCDS47337.1 [Q12951-2] |
PIRi | A47450 S51629 |
RefSeqi | NP_036320.2, NM_012188.4 [Q12951-1] NP_658982.1, NM_144769.2 [Q12951-2] |
3D structure databases
SMRi | Q12951 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108588, 37 interactors |
IntActi | Q12951, 36 interactors |
MINTi | Q12951 |
STRINGi | 9606.ENSP00000304286 |
PTM databases
iPTMneti | Q12951 |
PhosphoSitePlusi | Q12951 |
Polymorphism and mutation databases
BioMutai | FOXI1 |
DMDMi | 150421552 |
Proteomic databases
MassIVEi | Q12951 |
PaxDbi | Q12951 |
PeptideAtlasi | Q12951 |
PRIDEi | Q12951 |
ProteomicsDBi | 59045 [Q12951-1] 59046 [Q12951-2] |
Protocols and materials databases
Antibodypediai | 28812, 471 antibodies |
DNASUi | 2299 |
Genome annotation databases
Ensembli | ENST00000306268; ENSP00000304286; ENSG00000168269 [Q12951-1] ENST00000449804; ENSP00000415483; ENSG00000168269 [Q12951-2] |
GeneIDi | 2299 |
KEGGi | hsa:2299 |
UCSCi | uc003mai.5, human [Q12951-1] |
Organism-specific databases
CTDi | 2299 |
DisGeNETi | 2299 |
EuPathDBi | HostDB:ENSG00000168269.8 |
GeneCardsi | FOXI1 |
GeneReviewsi | FOXI1 |
HGNCi | HGNC:3815, FOXI1 |
HPAi | ENSG00000168269, Tissue enhanced (kidney, salivary gland) |
MalaCardsi | FOXI1 |
MIMi | 601093, gene |
neXtProti | NX_Q12951 |
OpenTargetsi | ENSG00000168269 |
Orphaneti | 402041, Autosomal recessive distal renal tubular acidosis 705, Pendred syndrome |
PharmGKBi | PA28232 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2294, Eukaryota |
GeneTreei | ENSGT00940000161316 |
HOGENOMi | CLU_046860_1_0_1 |
InParanoidi | Q12951 |
OMAi | MKVPRDD |
PhylomeDBi | Q12951 |
TreeFami | TF316127 |
Enzyme and pathway databases
PathwayCommonsi | Q12951 |
SignaLinki | Q12951 |
SIGNORi | Q12951 |
Miscellaneous databases
BioGRID-ORCSi | 2299, 7 hits in 866 CRISPR screens |
ChiTaRSi | FOXI1, human |
GeneWikii | FOXI1 |
GenomeRNAii | 2299 |
Pharosi | Q12951, Tbio |
PROi | PR:Q12951 |
RNActi | Q12951, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168269, Expressed in adult mammalian kidney and 44 other tissues |
ExpressionAtlasi | Q12951, baseline and differential |
Genevisiblei | Q12951, HS |
Family and domain databases
CDDi | cd00059, FH, 1 hit |
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR001766, Fork_head_dom IPR033065, Foxi1 IPR018122, TF_fork_head_CS_1 IPR030456, TF_fork_head_CS_2 IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR11829:SF180, PTHR11829:SF180, 1 hit |
Pfami | View protein in Pfam PF00250, Forkhead, 1 hit |
PRINTSi | PR00053, FORKHEAD |
SMARTi | View protein in SMART SM00339, FH, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS00657, FORK_HEAD_1, 1 hit PS00658, FORK_HEAD_2, 1 hit PS50039, FORK_HEAD_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FOXI1_HUMAN | |
Accessioni | Q12951Primary (citable) accession number: Q12951 Secondary accession number(s): Q14518, Q66SR7, Q8N6L8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | June 26, 2007 | |
Last modified: | December 2, 2020 | |
This is version 181 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations